Global Variome shared LOVD

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Phenotype #0000015217 Individual ID 00016593 Associated disease MCAP Phenotype details features: - megalencephaly - cerebellar tonsillar ectopia - abnormal thick corpus callosum - congenital somatic overgrowth - somatic asymmetry/hemihypertrophy - cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata - syndactyly - postaxial polydactyly - hypotonia - developmental delay - frontal bossing Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 06y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Dennis Döcker Database submission license No license selected Created by Dennis Döcker Date created 2014-05-14 20:03:28 +02:00 (CEST) Date last edited 2016-11-25 10:00:01 +01:00 (CET)

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